- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: IEA. (OMIM:609324)
- Proximal femoral metaphyseal irregularity (HP:0003411): Irregularity of the normally smooth surface of the proximal metaphysis of the femur. Evidence: IEA. (OMIM:609324)
- Arthralgia of the hip (HP:0003365): Joint pain affecting the hip. Evidence: IEA. (OMIM:609324)
- Broad femoral neck (HP:0006429): An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. (OMIM:609324)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:609324)
- Irregularity of vertebral bodies (HP:0004582). Evidence: TAS. (OMIM:609324)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. (OMIM:609324)
- Arthralgia (HP:0002829): Joint pain. Evidence: IEA. (OMIM:609324)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: IEA. (OMIM:609324)
- Flat distal femoral epiphysis (HP:0006398): An abnormal flattening of the distal epiphysis of femur. Evidence: IEA. (OMIM:609324)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: IEA. (OMIM:609324)
- Flared femoral metaphysis (HP:0002834). Evidence: TAS. (OMIM:609324)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: IEA. (OMIM:609324)
- Epiphyseal dysplasia (HP:0002656). Evidence: TAS. (OMIM:609324)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:609324)
These phenotypes are associated with the disease multiple epiphyseal dysplasia, with severe proximal femoral dysplasia (OMIM:609324).